Variant report

Variant	rs3886590
Chromosome Location	chr17:15168090-15168091
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMC3	chr17:15167983-15168190	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr17:15168079-15168187	Pancreas_OC	pancreas:	n/a	chr17:15168155-15168168
3	TCF12	chr17:15167792-15168858	A549	lung:	n/a	chr17:15168161-15168168
4	CTCF	chr17:15168033-15168174	MCF-7	breast:	n/a	chr17:15168155-15168168
5	CTCF	chr17:15168044-15168177	MCF-7	breast:	n/a	chr17:15168155-15168168
6	POLR2A	chr17:15168017-15168224	MCF-7	breast:	n/a	n/a
7	MYC	chr17:15167996-15168140	MCF-7	breast:	n/a	n/a
8	CTCF	chr17:15168020-15168170	MCF-7	breast:	n/a	chr17:15168155-15168168
9	CTCF	chr17:15168046-15168172	MCF-7	breast:	n/a	chr17:15168155-15168168
10	CTCF	chr17:15168046-15168151	MCF-7	breast:	n/a	n/a
11	POLR2A	chr17:15168002-15168128	MCF-7	breast:	n/a	n/a
12	CTCF	chr17:15168077-15168141	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:15140658..15142879-chr17:15167225..15168851,2	K562	blood:
2	chr17:15166284..15168477-chr17:15174435..15176206,2	MCF-7	breast:
3	chr17:15166025..15168279-chr17:15170899..15173519,3	MCF-7	breast:

Variant related genes	Relation type
PMP22	TF binding region
ENSG00000238806	Chromatin interaction
ENSG00000230971	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs57545907	1.00[AMR][1000 genomes]
rs58507114	1.00[AMR][1000 genomes]
rs59195607	1.00[AMR][1000 genomes]
rs73287752	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066329	chr17:14983674-15294071	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv543212	chr17:14983674-15294071	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv427990	chr17:15154329-15434020	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15163200-15168400	Active TSS	Right Atrium	heart
2	chr17:15166800-15168600	Enhancers	Hela-S3	cervix
3	chr17:15166800-15168800	Active TSS	Colonic Mucosa	Colon
4	chr17:15166800-15168800	Flanking Active TSS	A549	lung
5	chr17:15167000-15168200	Weak transcription	Placenta	Placenta
6	chr17:15167000-15168600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
7	chr17:15167000-15168800	Enhancers	Pancreas	Pancrea
8	chr17:15167000-15169000	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr17:15167200-15168200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr17:15167200-15171800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr17:15167400-15168200	Weak transcription	Brain Angular Gyrus	brain
12	chr17:15167400-15168200	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr17:15167400-15168400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr17:15167400-15168600	Active TSS	Fetal Intestine Small	intestine
15	chr17:15167400-15168800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr17:15167400-15168800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr17:15167400-15168800	Active TSS	Colon Smooth Muscle	Colon
18	chr17:15167400-15168800	Active TSS	Rectal Smooth Muscle	rectum
19	chr17:15167600-15168200	Bivalent Enhancer	Fetal Lung	lung
20	chr17:15167600-15168200	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr17:15167600-15168400	Active TSS	NHDF-Ad	bronchial
22	chr17:15167800-15168200	Active TSS	NHLF	lung
23	chr17:15167800-15168600	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr17:15167800-15168600	Flanking Active TSS	Fetal Intestine Large	intestine
25	chr17:15167800-15168600	Flanking Active TSS	Fetal Muscle Leg	muscle
26	chr17:15167800-15168800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr17:15167800-15168800	Flanking Bivalent TSS/Enh	Osteobl	bone
28	chr17:15167800-15169000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr17:15168000-15168200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr17:15168000-15168200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr17:15168000-15168200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr17:15168000-15168200	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr17:15168000-15168200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr17:15168000-15168200	Flanking Active TSS	Esophagus	oesophagus
35	chr17:15168000-15168200	Flanking Active TSS	Fetal Heart	heart
36	chr17:15168000-15168200	Active TSS	Rectal Mucosa Donor 31	rectum
37	chr17:15168000-15168200	Flanking Active TSS	Right Ventricle	heart
38	chr17:15168000-15168200	Bivalent Enhancer	Small Intestine	intestine
39	chr17:15168000-15168200	Enhancers	HMEC	breast
40	chr17:15168000-15168400	Active TSS	Brain Cingulate Gyrus	brain
41	chr17:15168000-15168400	Flanking Active TSS	Left Ventricle	heart
42	chr17:15168000-15168400	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr17:15168000-15168400	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr17:15168000-15168600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr17:15168000-15168600	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr17:15168000-15168600	Flanking Active TSS	Brain Substantia Nigra	brain
47	chr17:15168000-15168600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
48	chr17:15168000-15168600	Enhancers	Gastric	stomach
49	chr17:15168000-15168600	Active TSS	Lung	lung
50	chr17:15168000-15168600	Flanking Active TSS	Ovary	ovary

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